Submissions for variant NM_002473.6(MYH9):c.4679T>G (p.Val1560Gly)

dbSNP: rs1064794326

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000483533	SCV000568840	uncertain significance	not provided	2017-02-14	criteria provided, single submitter	clinical testing	The V1560G variant in the MYH9 gene has been reported previously in association with MYH9-related disorders (Saposnik et al., 2014; Zetterberg et al., 2016). The V1560G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The V1560G variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret V1560G as a variant of uncertain significance.
Genetic Services Laboratory, University of Chicago	RCV001821395	SCV002067196	uncertain significance	not specified	2018-07-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004722818	SCV005339001	uncertain significance	MYH9-related disorder	2024-06-10	no assertion criteria provided	clinical testing	The MYH9 c.4679T>G variant is predicted to result in the amino acid substitution p.Val1560Gly. This variant has been reported in individuals with MYH9-related disease (Saposnik et al. 2014. PubMed ID: 25077172; Zetterberg et al. 2015. PubMed ID: 26247237; https://doi.org/10.1093/ndt/gfy104.SP003). This variant has not been reported in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.